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A Natural History Study of Molybdenum Cofactor and Isolated Sulfite Oxidase Deficiencies

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT01735188
First Posted: November 28, 2012
Last Update Posted: July 19, 2016
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Information provided by (Responsible Party):
Alexion Pharmaceuticals
November 26, 2012
November 28, 2012
July 19, 2016
August 2013
November 2015   (Final data collection date for primary outcome measure)
To characterize the natural history of molybdenum cofactor deficiency (MoCD) type A, the most common subtype of MoCD, in terms of survival [ Time Frame: 12 months ]
To characterize the natural history of molybdenum cofactor deficiency (MoCD) type A, the most common subtype of MoCD, in terms of survival [ Time Frame: September 2014 ]
Complete list of historical versions of study NCT01735188 on ClinicalTrials.gov Archive Site
To evaluate levels of the biochemical markers S-sulfocysteine (SSC), uric acid, and xanthine in blood, urine, and cerebral spinal fluid over time in patients with MoCD and isolated sulfite oxidase (SOX) deficiency. [ Time Frame: 12 months ]
To evaluate levels of the biochemical markers S-sulfocysteine (SSC), uric acid, and xanthine in blood, urine, and cerebral spinal fluid over time in patients with MoCD and isolated sulfite oxidase (SOX) deficiency. [ Time Frame: September 2014 ]
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A Natural History Study of Molybdenum Cofactor and Isolated Sulfite Oxidase Deficiencies
A Natural History Study Of Molybdenum Cofactor And Isolated Sulfite Oxidase Deficiencies

Primary objective:

Characterize the natural history of MoCD type A in terms of survival

Secondary objectives:

  1. Evaluate blood and urine for biochemical markers
  2. Evaluate head circumference, seizure activity and neurologic outcomes
  3. To evaluate brain MRI
  4. Compare blood and urine analysis, head circumference, seizure activity and neurologic outcomes to MRI findings
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Observational
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Retention:   Samples With DNA
Description:
Plasma, urine, whole blood
Non-Probability Sample
The actual sample size will depend on successful identification of at least 30 MoCD Type A patients
  • Molybdenum Cofactor Deficiency
  • Isolated Sulfite Oxidase Deficiency
Not Provided
  • Living
  • Deceased
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Completed
65
June 2016
November 2015   (Final data collection date for primary outcome measure)

Inclusion Criteria:

  1. Both living and deceased patients of any age will be considered for study inclusion.
  2. Diagnosis of MoCD or isolated SOX deficiency
  3. Documented informed consent

Exclusion Criteria:

  1. MoCD Type A patient who was in Study ALX-MCD-501
  2. Deceased patients with unknown genotype (as of Amendment 4)
Sexes Eligible for Study: All
Child, Adult, Senior
No
Contact information is only displayed when the study is recruiting subjects
Canada,   Germany,   Israel,   Italy,   Japan,   Malaysia,   Netherlands,   Poland,   Saudi Arabia,   Spain,   Tunisia,   Turkey,   United Kingdom,   United States
 
 
NCT01735188
ALX-MCD-502
ALX-MCD-502 ( Registry Identifier: ALXN-MCD-502 )
No
Not Provided
Not Provided
Alexion Pharmaceuticals
Alexion Pharmaceuticals
Not Provided
Not Provided
Alexion Pharmaceuticals
July 2016